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EN
Aspartic acid codon 130 (GAT) in exon 5 was changed to alanine (GCT) (p.D130A) and an FRT site flanked neomycin resistance gene cassette was inserted into intron 3. The neo cassette was removed through subsequent Flp-mediated recombination. The mutation changes the phosphorylatable to an un-phosphorylatable residue in the encoded peptide and renders it kinase-dead. (J:305083)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
